Name: Aloiza Belle E.

Laviña Course and Year: Bs Psychology 2B

Instructor: Ma’am Eva Gladys B. Badar

Learning Outcomes

1. Differentiate Patau Syndrome, Edwards Syndrome, Down Syndrome, William

Syndrome, Turner Syndrome, Cat Eye Syndrome, Klinefelter Syndrome, and
Metafemale Syndrome.

- Patau's syndrome is a highly rare genetic disorder that results from having an extra
copy of chromosome 13 in some or all of the body's cells. It is also known as trisomy 13.
The 23 pairs of chromosomes that are generally present in each cell carry the genes
that you inherit from your parents. Yet, Patau's syndrome newborns have three copies
of chromosome 13 instead of two. Having an extra copy of chromosome 18 is a sign
that a kid has Edwards syndrome. Any or all of the baby's cells may contain this extra
copy, which might have negative health effects. Edwards syndrome comes in three
different forms: full form, mosaic form, and partial form. With full form Edwards'
syndrome, the newborn has inherited a whole extra copy of chromosome 18. This
duplicate is found in all of the baby's cells. The newborn has inherited a whole extra
copy of chromosome 18, however the copy is only present in some of the baby's cells in
mosaic form Edwards' syndrome. With the partial version of Edwards' syndrome, the
newborn only got a portion of an extra copy of chromosome 18. This is a very
uncommon variant of Edwards' syndrome. In infants with Down syndrome, many
chromosomes, including chromosome 21, are duplicated. Trisomy, the medical term for
possessing an extra copy of a chromosome, is frequently used to denote Down
syndrome. The baby's body and brain develop differently as a result of the extra copy,
which might cause problems with the infant's mental and physical growth. During
pregnancy, 26–28 genes on chromosome #7 spontaneously deleted, leading to the
development of William's syndrome. The deletion may occur in either the sperm or the
egg. WS affects both men and women equally everywhere. Turner syndrome is a
condition that primarily affects females and is caused by one or more of the X
chromosomes, usually referred to as the sex chromosomes, being missing or just
partially present. Among the physical and developmental problems that Turner
syndrome may cause is short height, the inability of the ovaries to mature, and cardiac
defects. Girls and women are affected by this chromosomal abnormality the most
frequently. A unusual chromosomal abnormality termed cat eye syndrome (CES) may
be seen from birth. People with a normal chromosomal make-up have two 22nd
chromosomes, each having a short arm known as 22p and a long arm known as 22q.
Boys and men who have Klinefelter syndrome, often known as Klinefelter's, KS, or XXY,
are born with an extra X chromosome. Every cell in the body has chromosomes, which
are gene-packaging structures. The sex of a newborn is determined by two
chromosome types known as the sex chromosomes. They have the names X or Y. In
general, a baby girl has two X chromosomes (XX), whereas a baby boy has one X and
one Y. (XY). Yet, a guy born with Klinefelter syndrome has an extra copy of the X
chromosome (XXY). Everyone has the X chromosome, which is not a "feminine"
chromosome. A girl who has an additional X chromosome at birth has triple X
syndrome, which is a hereditary disorder. Women alone are affected by this illness. It
might occur randomly or be passed on from a parent. If a woman has triple X syndrome,
she may not even be aware of it since she exhibits no symptoms, or she may
experience reproductive problems and tend to be tall. Triple X syndrome cannot be
cured.

2. Contrast the relative survival times of individual with Down Syndrome, Patau
Syndrome, and Edwards Syndrome.

- The likelihood of survival for infants without significant health issues is comparable to
that of normal children, and the majority of those with Down's syndrome live into their
60s or beyond. The majority of Down's syndrome individuals report enjoying their lives,
and they can lead productive lives. With assistance, a lot more adults with Down
syndrome are able to find employment, form relationships, and live somewhat
independently. However, the survival rates are low, and only 13% of infants with
Edward’s syndrome and 11% of infants with Patau’s syndrome will survive through their
first birthday. It is uncommon for newborns to live to maturity. All newborns with Patau's
syndrome and Edward’s syndrome will have a learning handicap in addition to a variety
of physical difficulties, some of which can be quite significant. Their digestive system,
kidneys, respiratory system, and heart may all be affected. Most infants with Patau's
syndrome also have cleft lips and palates, around 50% of the time. Low birth weight is a
symptom of Patau's syndrome and Edwards syndrome. Children can slowly advance in
their development despite their challenges. Either situation would need older kids to
attend a specialized school.

3. Speculate as to why such difference exist.

- Various genes are found on different chromosomes. That is, each chromosome
includes a distinct portion of the genome. Hence, distinction arises because structural
changes can occur during egg or sperm cell production, early fetal development, or in
any cell after delivery. DNA fragments can be rearranged within one chromosome or
transferred between two or more.
4. Discuss how the synaptic configurations of homologous pair of chromosome might
appear when one member is normal and the other member has sustained deletion or
duplication.

- There will be point-to-point pairing in all sections that may pair. The segment with no
homologous pair will create a deletion or compensation loop.